Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

• Autori principali: Kaestner Klaus H (Autore), Allen Robert (Autore), Stabler Sally (Autore), Tsai Matthew (Autore), Fu Hong (Autore), Sloan Jennifer (Autore), Chandler Randy J (Autore), Kazazian Haig H (Autore), Venditti Charles P (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2007-10-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation....